Condition: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE


rs1057516224 in SACS gene and SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE PMID 22751902 2012 Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing.

PMID 22816526 2013 Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

PMID 18604465 2008 A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.

PMID 21507954 2011 Structural basis of defects in the sacsin HEPN domain responsible for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

PMID 26366743 2015 High-Throughput Screening for Ligands of the HEPN Domain of Sacsin.

PMID 20368637 2010 Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay.

PMID 18465152 2008 ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

PMID 23497566 2013 Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

PMID 28641335 2017 Jumping Mechanography as a Complementary Testing Tool for Motor Function in Children with Hereditary Motor and Sensory Neuropathy.

PMID 23250129 2013 Diversity of ARSACS mutations in French-Canadians.

PMID 16961075 2006 Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 26288984 2015 New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 10655055 2000 ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

PMID 17716690 2008 Novel SACS mutation in a Belgian family with sacsin-related ataxia.

PMID 14718708 2004 Identification of a SACS gene missense mutation in ARSACS.

PMID 15156359 2004 Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.

PMID 17290461 2007 New mutation in the non-gigantic exon of SACS in Japanese siblings.

PMID 20876471 2010 Mutations in SACS cause atypical and late-onset forms of ARSACS.

PMID 16007637 2005 Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.

PMID 18398442 2008 A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

PMID 15985586 2005 A phenotype without spasticity in sacsin-related ataxia.

PMID 18484239 2008 Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.

PMID 12873855 2003 Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

PMID 27133561 2016 Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

PMID 19529988 2009 A novel SACS gene mutation in a Tunisian family.

PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 22805644 2012 Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.

PMID 23280630 2013 Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

PMID 17349660 2007 An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.

PMID 21993619 2012 New findings in the ataxia of Charlevoix-Saguenay.

PMID 20798953 2011 Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays.

PMID 11788093 2001 Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.

PMID 28658401 2017 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

PMID 19892370 2010 Novel mutations in the sacsin gene in ataxia patients from Maritime Canada.

PMID 18569450 2008 Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.

PMID 21450511 2011 Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

PMID 26010040 2016 Comorbidity in the Tunisian population.

PMID 23338241 2013 Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.

PMID 21665375 2011 Is the ataxia of Charlevoix-Saguenay a developmental disease?

PMID 24318559 2014 Cerebellum and neuropsychiatric disorders: insights from ARSACS.

PMID 20852969 2011 Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS.

PMID 24384335 2014 Ataxia of Charlevoix-Saguenay: MR and Clinical Results in Lower-Limb Musculature.

PMID 16944349 2006 Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.

PMID 19208651 2009 The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1.

PMID 17516465 2007 Sacsin-related ataxia with neither retinal hypermyelination nor spasticity.

PMID 26068213 2015 Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia.

PMID 15486997 2005 Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.

PMID 23043354 2013 Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.

PMID 21597885 2011 Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.